Tremelling Mark, Parkes Miles
Inflammatory Bowel Disease Research Group, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.
Inflamm Bowel Dis. 2007 Dec;13(12):1554-60. doi: 10.1002/ibd.20239.
The last 12 months have seen unprecedented progress in identifying the susceptibility genes that predispose to common disease in general and Crohn's disease in particular. Success has derived from the new technique of genome-wide association scanning in large panels of cases and controls. This has itself been made possible by the sequencing of the human genome,12 development of a map of common human haplotype structure (HapMap),3 and advances in genotyping technologies permitting ascertainment of hundreds of thousands of genetic variants in multiple individuals. Several previously unsuspected pathways particularly relating to innate immunity and the early host response to bacteria have been revealed as key determinants of Crohn's disease susceptibility. These will provide a solid foundation for directed functional and translational research. Further, the wealth of confirmed association data coming from unbiased surveys of the genome provided by genome-wide association scans provide several key pointers regarding design and analysis of inflammatory bowel disease genetics studies in the future.
在过去的12个月里，在确定导致常见疾病尤其是克罗恩病易感性的基因方面取得了前所未有的进展。成功源于在大量病例和对照中进行全基因组关联扫描的新技术。这本身得益于人类基因组测序、常见人类单倍型结构图谱（HapMap）的开发以及基因分型技术的进步，这些技术使得在多个个体中确定数十万个遗传变异成为可能。几个先前未被怀疑的途径，特别是与先天免疫和宿主对细菌的早期反应相关的途径，已被揭示为克罗恩病易感性的关键决定因素。这些将为定向功能研究和转化研究提供坚实的基础。此外，全基因组关联扫描对基因组进行无偏倚调查所产生的大量已证实的关联数据，为未来炎症性肠病遗传学研究的设计和分析提供了几个关键线索。
